Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
复制标题
DOI：
10.1186/s40246-023-00485-5
复制
发表时间：
2023-05-03
期刊：
影响因子：
4.5
通讯作者：
中科院分区：
文献类型：
--
作者：
外显子组和基因组测序仍然是遗传疾病诊断和研究的主要技术。充分、统一和可重复/一致的序列覆盖率是检测单核苷酸(SNV)和拷贝数变体(CNV)敏感性的主要决定因素。在这里，我们比较了最近的外显子组捕获试剂盒和基因组测序技术获得全面外显子组覆盖的能力。我们比较了三种不同的广泛使用的扩增试剂盒(Agilent SureSelect Human All Exon V5、Agilent SureSelect Human All Exon V7和Twist Bioscience)以及短读和长读WGS。我们表明，与其他外显子捕获试剂盒相比，Twist外显子捕获显著提高了编码区的完全覆盖和覆盖一致性。TWIST的性能可以与短读和长读全基因组测序相媲美。此外，我们还表明，即使在平均覆盖率降低到70倍的情况下，SNV和CNV检测的灵敏度损失也很小。我们得出结论，与其他外显子组捕获技术相比，使用Twist进行外显子组测序是一项重大的改进，并且可以在较低的序列覆盖率下进行。网上版载有补充材料，可在10.1186/s40246-023-00485-5查阅。
Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques. The online version contains supplementary material available at 10.1186/s40246-023-00485-5.
登录
查看更多内容
影响因子：
4.6
作者：
Pode-Shakked B;Barel O;Singer A;Regev M;Poran H;Eliyahu A;Finezilber Y;Segev M;Berkenstadt M;Yonath H;Reznik-Wolf H;Gazit Y;Chorin O;Heimer G;Gabis LV;Tzadok M;Nissenkorn A;Bar-Yosef O;Zohar-Dayan E;Ben-Zeev B;Mor N;Kol N;Nayshool O;Shimshoviz N;Bar-Joseph I;Marek-Yagel D;Javasky E;Einy R;Gal M;Grinshpun-Cohen J;Shohat M;Dominissini D;Raas-Rothschild A;Rechavi G;Pras E;Greenbaum L
通讯作者：
Greenbaum L
DOI：
10.1038/s41431-020-00770-0
发表时间：
2021-04
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Pauper M;Kucuk E;Wenger AM;Chakraborty S;Baybayan P;Kwint M;van der Sanden B;Nelen MR;Derks R;Brunner HG;Hoischen A;Vissers LELM;Gilissen C
通讯作者：
Gilissen C
影响因子：
46.9
作者：
通讯作者：
--
影响因子：
12.3
作者：
Parla JS;Iossifov I;Grabill I;Spector MS;Kramer M;McCombie WR
通讯作者：
McCombie WR
影响因子：
4.6
作者：
Barbitoff, Yury A.;Polev, Dmitrii E.;Predeus, Alexander V.
通讯作者：
Predeus, Alexander V.